ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830430999
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000481472
RCV000631259
RCV000764460
RCV001024946
ClinVar Variation:
421823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Arg164His
CA041951
NM_198156.3:c.491G>A